18 F-FDG PET/CT in erdheim-chester disease: Imaging findings and potential BRAF mutation biomarker

Jason R. Young, Geoffrey B. Johnson, Robert C. Murphy, Ronald S. Go, Stephen Broski

Research output: Contribution to journalArticle

Abstract

The purpose of this study was to evaluate 18F-FDG PET/CT for the diagnosis, management, and treatment of Erdheim-Chester disease (ECD). Methods: Our institutional database (2007-2017) was retrospectively reviewed for patients with pathologically proven ECD. A chart review yielded demographics, clinical information, and 5 categories of clinical impact. Two radiologists in consensus interpreted the images. Imaging findings were correlated with clinical data. Results: Seventy-one 18F-FDG PET/CT examinations were performed for 32 patients. The average SUVmax of the most active disease site was 9.2 (SD, 6.1). The most common sites involved were the skeleton (90.6% of patients, including 47% with axial and pelvic skeletal involvement), kidneys (81.3%), and central nervous system (CNS) (46.9%). Twenty-six patients were tested for a proto-oncogene B-Raf V600E (BRAF) mutation (18 had the mutation and 8 did not). The presence of a BRAF mutation was associated with 18F-FDG-avid CNS disease (P = 0.0357), higher SUVmax (P = 0.0044), and greater mortality (P = 0.0215). The presence of CNS disease had 88% specificity and a 92% positive predictive value for predicting the presence of a BRAF mutation. PET/CT examination results influenced patient management in 48% of cases (34/71). Conclusion: 18F-FDG PET/CT results may act as a biomarker for the presence of a BRAF mutation, aid in establishing a diagnosis, guide biopsies, and gauge the treatment response in ECD patients. Axial and pelvic skeletal involvement is greater than previously reported.

LanguageEnglish (US)
Pages774-779
Number of pages6
JournalJournal of Nuclear Medicine
Volume59
Issue number5
DOIs
StatePublished - May 1 2018

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Erdheim-Chester Disease
Biomarkers
Fluorodeoxyglucose F18
Mutation
Central Nervous System Diseases
Proto-Oncogenes
Skeleton
Catalytic Domain
Central Nervous System
Demography
Databases
Kidney
Biopsy
Mortality
Therapeutics

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

18 F-FDG PET/CT in erdheim-chester disease : Imaging findings and potential BRAF mutation biomarker. / Young, Jason R.; Johnson, Geoffrey B.; Murphy, Robert C.; Go, Ronald S.; Broski, Stephen.

In: Journal of Nuclear Medicine, Vol. 59, No. 5, 01.05.2018, p. 774-779.

Research output: Contribution to journalArticle

Young, Jason R. ; Johnson, Geoffrey B. ; Murphy, Robert C. ; Go, Ronald S. ; Broski, Stephen. / 18 F-FDG PET/CT in erdheim-chester disease : Imaging findings and potential BRAF mutation biomarker. In: Journal of Nuclear Medicine. 2018 ; Vol. 59, No. 5. pp. 774-779.
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abstract = "The purpose of this study was to evaluate 18F-FDG PET/CT for the diagnosis, management, and treatment of Erdheim-Chester disease (ECD). Methods: Our institutional database (2007-2017) was retrospectively reviewed for patients with pathologically proven ECD. A chart review yielded demographics, clinical information, and 5 categories of clinical impact. Two radiologists in consensus interpreted the images. Imaging findings were correlated with clinical data. Results: Seventy-one 18F-FDG PET/CT examinations were performed for 32 patients. The average SUVmax of the most active disease site was 9.2 (SD, 6.1). The most common sites involved were the skeleton (90.6{\%} of patients, including 47{\%} with axial and pelvic skeletal involvement), kidneys (81.3{\%}), and central nervous system (CNS) (46.9{\%}). Twenty-six patients were tested for a proto-oncogene B-Raf V600E (BRAF) mutation (18 had the mutation and 8 did not). The presence of a BRAF mutation was associated with 18F-FDG-avid CNS disease (P = 0.0357), higher SUVmax (P = 0.0044), and greater mortality (P = 0.0215). The presence of CNS disease had 88{\%} specificity and a 92{\%} positive predictive value for predicting the presence of a BRAF mutation. PET/CT examination results influenced patient management in 48{\%} of cases (34/71). Conclusion: 18F-FDG PET/CT results may act as a biomarker for the presence of a BRAF mutation, aid in establishing a diagnosis, guide biopsies, and gauge the treatment response in ECD patients. Axial and pelvic skeletal involvement is greater than previously reported.",
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